Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NC_000005.10:g.(?_70951931)_(70952001_?)del | SMN1 | Pathogenic | 5 | 70247758 | 70247828 | na | na | criteria provided, single submitter | - |
Deletion | NC_000005.10:g.(?_70951921)_(70952011_?)del | SMN1 | Pathogenic | 5 | 70247748 | 70247838 | na | na | criteria provided, single submitter | - |
Deletion | NM_000344.4(SMN1):c.835-21_*3+17del | SMN1 | Pathogenic | 5 | 70247747 | 70247838 | ACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT | A | criteria provided, single submitter | - |